A quantitative cross-sectional study of the burden of caring for patients with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex-associated epilepsy in Japan
CONCLUSIONS: Caregivers of patients with LGS, DS, or TSC in Japan experience a significant time burden, reduced HRQoL, and high level of work/activity impairment. Caregivers provide round-the-clock care to patients and rely on family and specialized caring services to help manage the increased caregiving time, which tends to be associated with greater emotional burden and HRQoL impact.PMID:38555725 | DOI:10.1016/j.yebeh.2024.109741 (Source: Epilepsy and Behaviour)
Source: Epilepsy and Behaviour - March 31, 2024 Category: Neurology Authors: Michael LoPresti Ataru Igarashi Yaoki Sonohara Sally Bowditch Source Type: research
A quantitative cross-sectional study of the burden of caring for patients with Lennox-Gastaut syndrome, Dravet syndrome, and tuberous sclerosis complex-associated epilepsy in Japan
CONCLUSIONS: Caregivers of patients with LGS, DS, or TSC in Japan experience a significant time burden, reduced HRQoL, and high level of work/activity impairment. Caregivers provide round-the-clock care to patients and rely on family and specialized caring services to help manage the increased caregiving time, which tends to be associated with greater emotional burden and HRQoL impact.PMID:38555725 | DOI:10.1016/j.yebeh.2024.109741 (Source: Epilepsy and Behaviour)
Source: Epilepsy and Behaviour - March 31, 2024 Category: Neurology Authors: Michael LoPresti Ataru Igarashi Yaoki Sonohara Sally Bowditch Source Type: research
Perivascular Epithelioid Cell-Family Tumors in Children, Adolescents and Young Adults:Clinicopathologic Features in 70 Cases
CONCLUSIONS.—: Compared to the general population, TSC was more prevalent in our cohort; PEComas-NOS showed more frequent TFE3 rearrangements and possible association with LFS. This series expands the spectrum of PEComas in young patients and demonstrates molecular features and germline contexts that set them apart from older patients.PMID:38547914 | DOI:10.5858/arpa.2023-0552-OA (Source: Archives of Pathology and Laboratory Medicine)
Source: Archives of Pathology and Laboratory Medicine - March 28, 2024 Category: Laboratory Medicine Authors: Phoebe M Hammer Angus Toland Muhammad Shaheen Archana Shenoy Ashwini Esnakula M John Hicks Mikako Warran Alyaa Al-Ibraheemi Jessica L Davis Serena Y Tan Source Type: research
Perivascular Epithelioid Cell-Family Tumors in Children, Adolescents and Young Adults:Clinicopathologic Features in 70 Cases
CONCLUSIONS.—: Compared to the general population, TSC was more prevalent in our cohort; PEComas-NOS showed more frequent TFE3 rearrangements and possible association with LFS. This series expands the spectrum of PEComas in young patients and demonstrates molecular features and germline contexts that set them apart from older patients.PMID:38547914 | DOI:10.5858/arpa.2023-0552-OA (Source: Archives of Pathology and Laboratory Medicine)
Source: Archives of Pathology and Laboratory Medicine - March 28, 2024 Category: Laboratory Medicine Authors: Phoebe M Hammer Angus Toland Muhammad Shaheen Archana Shenoy Ashwini Esnakula M John Hicks Mikako Warran Alyaa Al-Ibraheemi Jessica L Davis Serena Y Tan Source Type: research
Perivascular Epithelioid Cell-Family Tumors in Children, Adolescents and Young Adults:Clinicopathologic Features in 70 Cases
CONCLUSIONS.—: Compared to the general population, TSC was more prevalent in our cohort; PEComas-NOS showed more frequent TFE3 rearrangements and possible association with LFS. This series expands the spectrum of PEComas in young patients and demonstrates molecular features and germline contexts that set them apart from older patients.PMID:38547914 | DOI:10.5858/arpa.2023-0552-OA (Source: Archives of Pathology and Laboratory Medicine)
Source: Archives of Pathology and Laboratory Medicine - March 28, 2024 Category: Laboratory Medicine Authors: Phoebe M Hammer Angus Toland Muhammad Shaheen Archana Shenoy Ashwini Esnakula M John Hicks Mikako Warran Alyaa Al-Ibraheemi Jessica L Davis Serena Y Tan Source Type: research
Case report: Response to everolimus in a patient with platinum resistant, high grade serous ovarian carcinoma with biallelic TSC2 inactivation
ConclusionsWhile mTOR inhibition is frequently used in tumors associated with tuberous sclerosis complex (TSC), such as lymphangioleiomyomatosis and malignant perivascular epithelioid cell tumors, this is the first case of a patient with ovarian cancer harboring TSC1/2 mutations who responded to mTOR inhibition. This case highlights the utility of targeted DNA sequencing in the management of ovarian carcinoma and demonstrates the value of tumor-agnostic targeted therapies. (Source: Frontiers in Oncology)
Source: Frontiers in Oncology - March 27, 2024 Category: Cancer & Oncology Source Type: research
Lymphangioleiomyomatosis in patients with tuberous sclerosis: a national centre audit
Lymphangioleiomyomatosis (LAM) is common in tuberous sclerosis complex (TSC) yet under recognised with management mostly based upon evidence obtained from patients with sporadic LAM. We performed a prospective... (Source: Orphanet Journal of Rare Diseases)
Source: Orphanet Journal of Rare Diseases - March 26, 2024 Category: Internal Medicine Authors: Jan Johnson, Wendy Somerfield and Simon R. Johnson Tags: Research Source Type: research
Neuropsychiatric comorbidities in tuberous sclerosis complex patients with epilepsy: results of the TAND checklist survey
ConclusionsEpilepsy in patients with TSC contributes to comorbid neuropsychiatric disorders. In addition to epilepsy evaluation, it is crucial to evaluate the heterogeneous spectrum of neuropsychiatric disorders using a standard checklist during the annual clinical follow-up of patients with TSC. (Source: Acta Neurologica Belgica)
Source: Acta Neurologica Belgica - March 25, 2024 Category: Neurology Source Type: research
Measurement of Developmental and Behavioral Concerns in Toddlers with Tuberous Sclerosis Complex
TAND symptoms are very common in toddlers with TSC, and these symptoms may increase with age. The TAND Checklist is a useful tool for identifying behavioral concerns efficiently, but several items and sections are not suited to younger children. Results support the development of an abbreviated form of the TAND Checklist for toddlers. (Source: Pediatric Neurology)
Source: Pediatric Neurology - March 21, 2024 Category: Neurology Authors: Nicole M. McDonald, Sydney Jacobs, Carly Hyde, Connie Kasari, Shafali S. Jeste Tags: Research Paper Source Type: research
Response to updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy
Eur J Paediatr Neurol. 2024 Feb 27;49:129-130. doi: 10.1016/j.ejpn.2024.01.005. Online ahead of print.NO ABSTRACTPMID:38507891 | DOI:10.1016/j.ejpn.2024.01.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 20, 2024 Category: Neurology Authors: Sam Amin Finbar O'Callaghan Source Type: research
Response to updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy
Eur J Paediatr Neurol. 2024 Feb 27;49:129-130. doi: 10.1016/j.ejpn.2024.01.005. Online ahead of print.NO ABSTRACTPMID:38507891 | DOI:10.1016/j.ejpn.2024.01.005 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - March 20, 2024 Category: Neurology Authors: Sam Amin Finbar O'Callaghan Source Type: research
Ocular manifestations of renal ciliopathies
AbstractRenal ciliopathies are a common cause of kidney failure in children and adults, and this study reviewed their ocular associations. Genes affected in renal ciliopathies were identified from the Genomics England Panels. Ocular associations were identified from Medline and OMIM, and the genes additionally examined for expression in the human retina (https://www.proteinatlas.org/humanproteome/tissue) and for an ocular phenotype in mouse models (http://www.informatics.jax.org/). Eighty-two of the 86 pediatric-onset renal ciliopathies (95%) have an ocular phenotype, including inherited retinal degeneration, oculomotor di...
Source: Pediatric Nephrology - March 15, 2024 Category: Urology & Nephrology Source Type: research
Nutritional status as a predictive factor for paediatric tuberous sclerosis complex-associated kidney angiomyolipomas: a retrospective analysis
Conclusions: While gender and genotype are known predictors, this study includes the novel finding of nutritional status as a predictor of TSC-associated kidney disease. This study sheds light on a possible complex interplay of hormonal influences, obesity, and kidney angiomyolipomas growth, and further investigations focusing on the impact of nutritional status on TSC-associated kidney disease are warranted.What is Known:•Gender and genotype are well-studied predictive factors in TSC kidney disease.What is New:•Nutritional status may influence the development and the progression of kidney lesions in children with TSC ...
Source: European Journal of Pediatrics - March 14, 2024 Category: Pediatrics Source Type: research
Cardiac Rhabdomyomas Presenting with Critical Cardiac Obstruction in Neonates and Infants: Treatment Strategies and Outcome, A Single-Center Experience
We present the outcomes of neonates and an infant who received treatment for symptomatic rhabdomyomas at a tertiary cardiology center. Medical records were reviewed to obtain clinical, demographic, and outcome data. Six patients received interventions for symptomatic rhabdomyomas, median age at presentation was 1 day old (range from 1 to 121 days old), and 67% of the patients had a pathogenic mutation in TSC gene. One patient underwent surgical resection of solitary tumor at right ventricular outflow tract (RVOT) successfully. In the four patients with left ventricular outflow tract (LVOT) obstruction, two patients receive...
Source: Pediatric Cardiology - March 13, 2024 Category: Cardiology Source Type: research
A real-world disproportionality analysis of Everolimus: data mining of the public version of FDA adverse event reporting system
Conclusion: This study provided novel insights into the monitoring, surveillance, and management of adverse drug reaction associated with Everolimus. The outcome of serious adverse events and the corresponding detection signals, as well as the unexpected significant adverse events signals are worthy of attention in order to improving clinical medication safety during treatment of Everolimus. (Source: Frontiers in Pharmacology)
Source: Frontiers in Pharmacology - March 12, 2024 Category: Drugs & Pharmacology Source Type: research
